CEP89 centrosomal protein 89 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP89provided by HGNC
Official Full Name: centrosomal protein 89provided by HGNC
Primary source: HGNC:HGNC:25907
See related: Ensembl:ENSG00000121289 MIM:615470
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CEP123; CCDC123
Expression: Ubiquitous expression in ovary (RPKM 2.9), endometrium (RPKM 2.6) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 19q13.11

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (32875925..32972024, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (33369904..33462930, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

CEP89 proteins play an important role in mitochondrial metabolism, especially complex IV activity, and are required for neuronal and cognitive function across evolution.
Title: CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Genetic loci influencing kidney function and chronic kidney disease. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

Go to the top of the page Help

Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
Cilium Assembly, organism-specific biosystem (from REACTOME)
Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G54009 (e-PCR)
- UniSTS:109313

G54010 (e-PCR)
- UniSTS:109314

RH93152 (e-PCR)
- UniSTS:89643

PMC156606P3 (e-PCR)
- UniSTS:271410

D19S868 (e-PCR)
- UniSTS:64324

SHGC-7102 (e-PCR)
- UniSTS:14472

G60527 (e-PCR)
- UniSTS:137633

Homology

Homologs of the CEP89 gene: The CEP89 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 263 organisms have orthologs with human gene CEP89
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
ciliary basal body-plasma membrane docking	TAS Traceable Author Statement more info
cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
mitochondrion organization	IEA Inferred from Electronic Annotation more info
non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
centriole	IDA Inferred from Direct Assay more info	PubMed
centrosome	IDA Inferred from Direct Assay more info	PubMed
ciliary transition fiber	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info
cytosol	TAS Traceable Author Statement more info
mitochondrial intermembrane space	IEA Inferred from Electronic Annotation more info
motile cilium	IEA Inferred from Electronic Annotation more info
non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info
spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: centrosomal protein of 89 kDa

Names: centrosomal protein 123; centrosomal protein 89kDa; coiled-coil domain containing 123; coiled-coil domain-containing protein 123, mitochondrial

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_032816.5 → NP_116205.3 centrosomal protein of 89 kDa

See identical proteins and their annotated locations for NP_116205.3

Status: VALIDATED

Source sequence(s)

AC008805, BC136328, BU196203, BU628988, DA040903, DB539713

Consensus CDS

CCDS32987.1

UniProtKB/Swiss-Prot

Q96ST8

Related

ENSP00000306105.4, ENST00000305768.10

Conserved Domains (1) summary

TIGR04211
Location:233 → 346

SH3_and_anchor; SH3 domain protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p13 Primary Assembly

Range

32875925..32972024 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259344.3 → XP_005259401.1 centrosomal protein of 89 kDa isoform X1

Conserved Domains (1) summary

COG1196
Location:238 → 695

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_024451745.1 → XP_024307513.1 centrosomal protein of 89 kDa isoform X3

Conserved Domains (1) summary

cl25732
Location:122 → 346

SMC_N; RecF/RecN/SMC N terminal domain
XM_017027398.1 → XP_016882887.1 centrosomal protein of 89 kDa isoform X2